Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

Autor: Eva Tornero, Francisco Quiles, Lídia Feliubadaló, Olga Campos, Alex Teulé, Raül Santamaria, Mireia Menéndez, Jesús del Valle, Joan Brunet, Angel Izquierdo, Carolina Gómez, Conxi Lázaro, Sarai Palanca, Gabriel Capellá

Publikováno v: BREAST CANCER RESEARCH AND TREATMENT
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Germline inactivating mutations in the BRCA1 and BRCA2 genes are responsible for hereditary breast and ovarian cancer syndrome (HBOCS). Genetic testing of these genes identifies a significant proportion of variants of uncertain significance (VUS). El

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bcf2257aaa521d5170ec6f78c0f0f52
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=9161

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease

Autor: Daniel Grinberg, Raül Santamaria, Lluïsa Vilageliu, Manuel Cidrás, Magdalena Montfort, Anna Diaz-Font, Amparo Chabás, Laura Gort

Publikováno v: Blood Cells, Molecules, and Diseases. 35:253-258

Gaucher disease, the most common lysosomal storage disorder, encompasses a wide spectrum of clinical symptoms. The perinatal lethal form is very rare and is considered a distinct form of classic type 2 Gaucher disease. Prominent features of the sever

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d939c0f02605e6a81449364e60cfc5
https://doi.org/10.1016/j.bcmd.2005.04.007

Identification of a novel pseudodeficiency allele in theGLB1gene in a carrier of GM1 gangliosidosis

Autor: A Chabás, Lluïsa Vilageliu, Laura Gort, Daniel Grinberg, Raül Santamaria

Publikováno v: Clinical Genetics. 72:109-111

The term 'pseudodeficiency' is used in lysosomal storage diseases to denote the situation in which individuals show greatly reduced enzyme activity but remain clinically healthy. Pseudodeficiencies have been reported for several lysosomal hydrolases.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0f8dbdc69e6f451ef09750cc3084037
https://doi.org/10.1111/j.1399-0004.2007.00843.x

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

Autor: Lluïsa Vilageliu, Amparo Chabás, Daniel Grinberg, Mirella Filocamo, Marina Moraitou, E. Dimitriou, Silvia Dominissini, Serena Grossi, Maria Gabriela Pittis, Raül Santamaria, Gessamí Sánchez-Ollé, Helen Michelakakis

Publikováno v: Human mutation. 29(6)

Gaucher disease is an autosomal recessive lysosomal storage disease that is mainly due to mutations in the GBA gene. Most of the mutant alleles described so far bear a single mutation. However, there are a few alleles bearing two or more DNA changes.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb9e238a5ed5df422e319f8296c934e
https://pubmed.ncbi.nlm.nih.gov/18429048

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Autor: Maria Josep Coll, Raül Santamaria, Daniel Grinberg, Clara Sá Miranda, Lluïsa Vilageliu, Amparo Chabás

Publikováno v: Human mutation. 27(10)

GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by beta-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of GM1-gangliosidosis have been established on the basis of age of ons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd804c2439555f3eb41fef167139881
https://pubmed.ncbi.nlm.nih.gov/16941474